GHRHR gene homepage

A Growth Genetics Consortium gene variant database
General information
Gene symbol GHRHR
Gene name growth hormone releasing hormone receptor
Chromosome 7
Chromosomal band p14
Imprinted Unknown
Genomic reference NG_021416.1
Transcript reference NM_000823.3
Exon/intron information NM_000823.3 exon/intron table
Associated with diseases IGHD-1B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 48
Unique public DNA variants reported 43
Individuals with public variants 23
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden (Nederland) with the help of the Growth Genetics Consortium.
Date created May 03, 2013
Date last updated February 01, 2019
Version GHRHR:190201

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000823.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/GHR
External URL Growth Genetics Consortium
HGNC 4266
Entrez Gene 2692
PubMed articles GHRHR
OMIM - Gene 139191
OMIM - Diseases IGHD-1B (growth hormone deficiency, isolated, type IB (IGHD-1B))
HGMD GHRHR
GeneCards GHRHR
GeneTests GHRHR


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00008499 7 growth hormone releasing hormone receptor NM_000823.3 NP_000814.2 48


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.